ClinVar Miner

List of variants in gene PKLR reported as likely pathogenic for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351

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